Product Details

SNP ID

rs190990021

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:102653965 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCCAGGTCAAGCCTGAAAAGAAG[C/G]CTGGGGAAGAGGTTGTAGGTGGGGC

Phenotype

MIM: 300417

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ARMCX5-GPRASP2 PubMed Links

Gene Details

Gene

ARMCX5-GPRASP2

Gene Name

ARMCX5-GPRASP2 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199818.1	777	Intron			NP_001186747.1

Gene

GPRASP1

Gene Name

G protein-coupled receptor associated sorting protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001099410.1	777	Missense Mutation	CCT,GCT	P18A	NP_001092880.1
NM_001099411.1	777	Missense Mutation	CCT,GCT	P18A	NP_001092881.1
NM_001184727.1	777	Missense Mutation	CCT,GCT	P18A	NP_001171656.1
NM_014710.4	777	Missense Mutation	CCT,GCT	P18A	NP_055525.3
XM_017029981.1	777	Missense Mutation	CCT,GCT	P18A	XP_016885470.1
XM_017029982.1	777	Missense Mutation	CCT,GCT	P18A	XP_016885471.1

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